Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.

Abstract:

:Mutations in the gene for the ganglioside-induced-differentiation-associated-protein 1 on 8q21 were recently reported to cause autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We report a detailed clinical, electrophysiological and genetic study of two young patients harbouring missense GDAP1 mutations. The two patients presented severe neuropathy with an early onset. One of the mutations (Tyr279Cys) has never been hitherto reported. Electrophysiological investigations suggested a predominant axonal damage in both patients. Despite the similitude of the type of mutations and electromyographic features, the clinical course was different for the patients, highlighting the complexity of genotype/phenotype relationships among GDAP1 mutations.

journal_name

Neuropediatrics

journal_title

Neuropediatrics

authors

Rougeot C,Chabrier S,Camdessanche JP,Prieur F,d'Anjou MC,Latour P

doi

10.1055/s-0028-1085467

subject

Has Abstract

pub_date

2008-06-01 00:00:00

pages

184-7

issue

3

eissn

0174-304X

issn

1439-1899

journal_volume

39

pub_type

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